Search Results - "Erdmann, Hannes"

Sensory neuropathy due to RFC1 in a patient with ALS: more than a coincidence? by Schoeberl, Florian, Abicht, Angela, Kuepper, Clemens, Voelk, Stefanie, Sonnenfeld, Stefan, Tonon, Matthias, Schaub, Annalisa, Scholz, Veronika, Kleinle, Stephanie, Erdmann, Hannes, Wolf, Dieter A., Reilich, Peter

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Reply: An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 1 by Erdmann, Hannes, Scharf, Florentine, Hallermayr, Ariane, Barseghyan, Hayk, Walter, Maggie C, Holinski-Feder, Elke, Schoser, Benedikt, Abicht, Angela

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Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease by Schaub, Annalisa, Erdmann, Hannes, Scholz, Veronika, Timmer, Manuela, Cordts, Isabell, Günther, Rene, Reilich, Peter, Abicht, Angela, Schöberl, Florian

“…Biallelic pathogenic repeat expansions in RFC1 were recently identified as molecular origin of cerebellar ataxia, neuropathy, vestibular areflexia syndrome…”
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Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing by Erdmann, Hannes, Schöberl, Florian, Giurgiu, Mădălina, Leal Silva, Rafaela Magalhaes, Scholz, Veronika, Scharf, Florentine, Wendlandt, Martin, Kleinle, Stephanie, Deschauer, Marcus, Nübling, Georg, Heide, Wolfgang, Babacan, Sait Seymen, Schneider, Christine, Neuhann, Teresa, Hahn, Katrin, Schoser, Benedikt, Holinski-Feder, Elke, Wolf, Dieter A, Abicht, Angela

“…Abstract Instability of simple DNA repeats has been known as a common cause of hereditary ataxias for over 20 years. Routine genetic diagnostics of these…”
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Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy by Erdmann, Hannes, Scharf, Florentine, Gehling, Stefanie, Benet-Pagès, Anna, Jakubiczka, Sibylle, Becker, Kerstin, Seipelt, Maria, Kleefeld, Felix, Knop, Karl Christian, Prott, Eva-Christina, Hiebeler, Miriam, Montagnese, Federica, Gläser, Dieter, Vorgerd, Matthias, Hagenacker, Tim, Walter, Maggie C, Reilich, Peter, Neuhann, Teresa, Zenker, Martin, Holinski-Feder, Elke, Schoser, Benedikt, Abicht, Angela

“…Abstract Genetic diagnosis of facioscapulohumeral muscular dystrophy (FSHD) remains a challenge in clinical practice as it cannot be detected by standard…”
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Structures and Reactivities of 2‑Trityl- and 2‑(Triphenylsilyl)pyrrolidine-Derived Enamines: Evidence for Negative Hyperconjugation with the Trityl Group by Erdmann, Hannes, An, Feng, Mayer, Peter, Ofial, Armin R, Lakhdar, Sami, Mayr, Herbert

“…X-ray structures of enamines and iminium ions derived from 2-tritylpyrrolidine (Maruoka catalyst) and 2-(triphenylsilyl)­pyrrolidine (Bolm–Christmann–Strohmann…”
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Biomimetic Hydroxylation Catalysis Through Self-Assembly of a Bis(pyrazolyl)methane Copper-Peroxo Complex by Wilfer, Claudia, Liebhäuser, Patricia, Erdmann, Hannes, Hoffmann, Alexander, Herres-Pawlis, Sonja

“…We synthesised and characterised four copper complexes (with copper in the oxidation states I and II) with the bis(pyrazolyl)methane ligands HC(3‐tBuPz)2(Py)…”
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Efficient Biomimetic Hydroxylation Catalysis with a Bis(pyrazolyl)imidazolylmethane Copper Peroxide Complex by Wilfer, Claudia, Liebhäuser, Patricia, Hoffmann, Alexander, Erdmann, Hannes, Grossmann, Oleg, Runtsch, Leander, Paffenholz, Eva, Schepper, Rahel, Dick, Regina, Bauer, Matthias, Dürr, Maximilian, Ivanović-Burmazović, Ivana, Herres-Pawlis, Sonja

“…Bis(pyrazolyl)methane ligands are excellent components of model complexes used to investigate the activity of the enzyme tyrosinase. Combining the N donors…”
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Location matters – Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P by Reilich, Peter, Schlotter, Beate, Montagnese, Federica, Jordan, Berit, Stock, Friedrich, Schäff-Vogelsang, Mario, Hotter, Benjamin, Eger, Katherina, Diebold, Isabel, Erdmann, Hannes, Becker, Kerstin, Schön, Ulrike, Abicht, Angela

“…•LRSAM1 mutations define the subgroup of axonal neuropathy CMT2P.•Clinical and electrophysiological data of 14 patients out of 12 families confirm a late onset…”
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Destabilization of the metal site as a hub for the pathogenic mechanism of five ALS-linked mutants of copper, zinc superoxide dismutaseElectronic supplementary information (ESI) available. See DOI: 10.1039/c6mt00085a by Mera-Adasme, Raúl, Erdmann, Hannes, Bere niak, Tomasz, Ochsenfeld, Christian

“…Amyotrophic lateral sclerosis (ALS) is a lethal neurodegenerative disease, with no effective pharmacological treatment. Its pathogenesis is unknown, although a…”
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Destabilization of the metal site as a hub for the pathogenic mechanism of five ALS-linked mutants of copper, zinc superoxide dismutase by Mera-Adasme, Raúl, Erdmann, Hannes, Bereźniak, Tomasz, Ochsenfeld, Christian

“…Amyotrophic lateral sclerosis (ALS) is a lethal neurodegenerative disease, with no effective pharmacological treatment. Its pathogenesis is unknown, although a…”
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Inside Cover: Efficient Biomimetic Hydroxylation Catalysis with a Bis(pyrazolyl)imidazolylmethane Copper Peroxide Complex (Chem. Eur. J. 49/2015) by Wilfer, Claudia, Liebhäuser, Patricia, Hoffmann, Alexander, Erdmann, Hannes, Grossmann, Oleg, Runtsch, Leander, Paffenholz, Eva, Schepper, Rahel, Dick, Regina, Bauer, Matthias, Dürr, Maximilian, Ivanović-Burmazović, Ivana, Herres-Pawlis, Sonja

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